New syndrome: brain malformation, growth retardation, hypokinesia and polyhydramnios in two brothers

Clin Dysmorphol. 1997 Jan;6(1):13-9.

Abstract

We report two brothers who were born after pregnancies characterized by polyhydramnios and hypokinesia. Both had brain malformation (absence of corpus callosum in one; arhinencephaly in the other), telecanthus and narrow palpebral fissures. This family and several similar phenotypes reported only in affected brothers could reflect X-linked inheritance.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / abnormalities*
  • Developmental Disabilities / complications*
  • Developmental Disabilities / genetics
  • Female
  • Genetic Linkage
  • Humans
  • Hypokinesia / congenital*
  • Hypokinesia / genetics
  • Infant, Newborn
  • Male
  • Polyhydramnios / complications*
  • Pregnancy
  • Syndrome
  • X Chromosome